Brittle cornea syndrome: recognition, molecular diagnosis and management

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, in which causati...

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מידע ביבליוגרפי
Main Authors: Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2013
נושאים:
Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://ncbi.nlm.nih.gov/pubmed/23642083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-68
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